mutLBSgeneDB

mutLBSgeneDB
mutated Ligand Binding Site gene DataBase

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Gene Summary

Ligand Binding Site Mutation Information

Protein Structure Related Information

Gene Expression and Gene-Gene Network

Phenotype Information

Pharmacological Information

Conservation Information for LBS

Gene summary for RECQL
Gene summary
Basic gene Info.Gene symbolRECQL
Gene nameRecQ helicase-like
SynonymsRECQL1|RecQ1
CytomapUCSC genome browser: 12p12
Type of geneprotein-coding
RefGenesNM_002907.3,
NM_032941.2,
DescriptionATP-dependent DNA helicase Q1DNA helicase, RecQ-like type 1DNA-dependent ATPase Q1RecQ protein-like (DNA helicase Q1-like)recQ protein-like 1
Modification date20141207
dbXrefs MIM : 600537
HGNC : HGNC
Ensembl : ENSG00000004700
HPRD : 02762
Vega : OTTHUMG00000169131
ProteinUniProt: P46063
go to UniProt's Cross Reference DB Table
ExpressionCleanEX: HS_RECQL
BioGPS: 5965
PathwayNCI Pathway Interaction Database: RECQL
KEGG: RECQL
REACTOME: RECQL
Pathway Commons: RECQL
ContextiHOP: RECQL
ligand binding site mutation search in PubMed: RECQL
UCL Cancer Institute: RECQL
Assigned class in mutLBSgeneDBC: This gene just belongs to mutLBSgenes.

Gene ontology having evidence of Inferred from Direct Assay (IDA) from Entrez
GO IDGO TermPubMed ID
GO:0000733DNA strand renaturation19177149
GO:0032508DNA duplex unwinding11562355


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Ligand binding site mutations for RECQL

Cancer type specific mutLBS sorted by frequency
LBSAAchange of nsSNVCancer type# samples
I567,Y569S568LCOAD1
C471N472SCOAD1
C471N472KOV1
C453R455LSTAD1
R232R232IUCEC1
C453C453RUCEC1
cf) Cancer type abbreviation. BLCA: Bladder urothelial carcinoma, BRCA: Breast invasive carcinoma, CESC: Cervical squamous cell carcinoma and endocervical adenocarcinoma, COAD: Colon adenocarcinoma, GBM: Glioblastoma multiforme, LGG: Brain lower grade glioma, HNSC: Head and neck squamous cell carcinoma, KICH: Kidney chromophobe, KIRC: Kidney renal clear cell carcinoma, KIRP: Kidney renal papillary cell carcinoma, LAML: Acute myeloid leukemia, LUAD: Lung adenocarcinoma, LUSC: Lung squamous cell carcinoma, OV: Ovarian serous cystadenocarcinoma, PAAD: Pancreatic adenocarcinoma, PRAD: Prostate adenocarcinoma, SKCM: Skin cutaneous melanoma, STAD: Stomach adenocarcinoma, THCA: Thyroid carcinoma, UCEC: Uterine corpus endometrial carcinoma.


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Protein structure related information for RECQL
Relative protein structure stability change (ΔΔE) using Mupro 1.1
Mupro score denotes assessment of the effect of mutations on thermodynamic stability.
  (ΔΔE<0: mutation decreases stability, ΔΔE>0: mutation increases stability)
: nsSNV at non-LBS: nsSNV at LBS

nsSNVs sorted by the relative stability change of protein structure by each mutation
Blue: mutations of positive stability change. and red : the most recurrent mutation for this gene.
LBSAAchange of nsSNVRelative stability change
Y569S568L0.11772831
I567S568L0.11772831
C453R455L0.00874524
R232R232I-1.1231915
C453C453R-0.6241447
C471N472S-0.53997237
C471N472K-0.45894091
(MuPro1.1: Jianlin Cheng et al., Prediction of Protein Stability Changes for Single-Site Mutations Using Support Vector Machines, PROTEINS: Structure, Function, and Bioinformatics. 2006, 62:1125-1132)

Structure image for RECQL from PDB

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Differential gene expression and gene-gene network for RECQL
Differential gene expression between mutated and non-mutated LBS samples in all 16 major cancer types

Differential co-expressed gene network based on protein-protein interaction data (CePIN)
* Left PPI network was created from samples with mutations in the LBS of RECQL and the right PPI network was created from samples without mutations in the LBS of RECQL. Only genes with p-value < 0.05 are shown.
Red circle: input gene. Orange circle: LBSgene. Blue circle: other gene.


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Phenotype information for RECQL
Gene level disease information (DisGeNet)
Disease IDDisease name# PubMedAssociation type
umls:C0017661Glomerulonephritis, IGA1Biomarker

Mutation level pathogenic information (ClinVar annotation)
Allele IDAA changeClinical significanceOriginPhenotype IDs

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Pharmacological information for RECQL
Gene expression profile of anticancer drug treated cell-lines (CCLE)
Heatmap showing the correlation between gene expression and drug response across all the cell-lines. We chose the top 20 among 138 drugs.We used Pearson's correlation coefficient.
Drug information targeting mutLBSgene (Approved drugs only)
Drug statusDrugBank IDNameTypeDrug structure

Gene-centered ligand-gene interaction network

Ligands binding to mutated ligand binding site of RECQL go to BioLip
Ligand IDLigand short nameLigand long namePDB IDPDB namemutLBS
ZNZINC(2+)2v1xAC453 C471
ZNZINC(2+)2v1xBC453 C471
ZNZINC(2+)2wwyAC453 C471
ZNZINC(2+)2wwyBC453 C471
ZNZINC(2+)4u7dAC453 C471
ZNZINC(2+)4u7dBC453 C471
ZNZINC(2+)4u7dCC453 C471
ZNZINC(2+)4u7dDC453 C471
NUCNucleic Acids2wwyAI567 Y569
NUCNucleic Acids2wwyBI567 Y569
NUCNucleic Acids4u7dAI567 Y569
NUCNucleic Acids4u7dBI567 Y569
NUCNucleic Acids4u7dDI567 Y569
NUCNucleic Acids2wwyAR232
NUCNucleic Acids2wwyBR232


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Conservation information for LBS of RECQL
Multiple alignments for P46063 in multiple species
LBSAA sequence# speciesSpecies
A346AGTYHANMEPE2Rattus norvegicus, Mus musculus
A346AGAYHANLEPE1Homo sapiens
A346ADYYHADMDAN1Arabidopsis thaliana
A346AKHYHAYMEPV1Caenorhabditis elegans
A373VVATVAFGMGI3Homo sapiens, Rattus norvegicus, Mus musculus
A373IVGTVAFGMGI1Arabidopsis thaliana
A373IVATVAFGMGI1Caenorhabditis elegans
A525MGKGAAKLRVA2Homo sapiens, Mus musculus
A525RNKHKD-----1Arabidopsis thaliana
A525TKK--------1Caenorhabditis elegans
A525MGKGAAKFRVA1Rattus norvegicus
A563DYSFTAYATIS3Homo sapiens, Rattus norvegicus, Mus musculus
A563EFQHTPYSTNA1Arabidopsis thaliana
A563DFHYTVYSVIS1Caenorhabditis elegans
A565SFTAYATISYL3Homo sapiens, Rattus norvegicus, Mus musculus
A565QHTPYSTNAYV1Arabidopsis thaliana
A565HYTVYSVISYV1Caenorhabditis elegans
C453QNISKCRRVLM1Homo sapiens
C453QSKTKCRRSAF1Arabidopsis thaliana
C453ADSSTCRRVKL1Caenorhabditis elegans
C453QNISKCRRALI1Rattus norvegicus
C453QNVSKCRRVLI1Mus musculus
C471WNADACNKMCD2Rattus norvegicus, Mus musculus
C471WNSEACNKMCD1Homo sapiens
C471-PSQDCNGMCD1Arabidopsis thaliana
C471WEPSWCQKQCD1Caenorhabditis elegans
C475ACNKMCDNCCK3Homo sapiens, Rattus norvegicus, Mus musculus
C475DCNGMCDNCAL1Arabidopsis thaliana
C475WCQKQCDTCEN1Caenorhabditis elegans
C478KMCDNCCKDSA1Homo sapiens
C478GMCDNCALSSE1Arabidopsis thaliana
C478KQCDTCENGNG1Caenorhabditis elegans
C478KMCDNCCKDDS1Rattus norvegicus
C478KMCDNCCKDVS1Mus musculus
D230SQWGHDFRPDY4Homo sapiens, Arabidopsis thaliana, Rattus norvegicus, Mus musculus
D230SQWGHDFRTDY1Caenorhabditis elegans
D379FGMGIDKPDVR3Homo sapiens, Rattus norvegicus, Mus musculus
D379FGMGINKPDVR1Arabidopsis thaliana
D379FGMGIDKPNVR1Caenorhabditis elegans
E433SMVVMENVGQQ3Homo sapiens, Rattus norvegicus, Mus musculus
E433SMVFYEYSGLQ1Arabidopsis thaliana
E433SMVQQERTGIQ1Caenorhabditis elegans
F231QWGHDFRPDYK4Homo sapiens, Arabidopsis thaliana, Rattus norvegicus, Mus musculus
F231QWGHDFRTDYS1Caenorhabditis elegans
F322GIIYCFSQKDS3Homo sapiens, Rattus norvegicus, Mus musculus
F322GIVYCFSRKEC1Arabidopsis thaliana
F322GIIYCLSRNDC1Caenorhabditis elegans
G116LVMPTGGGKSL3Homo sapiens, Rattus norvegicus, Mus musculus
G116VIMAAGGGKSL1Arabidopsis thaliana
G116VILSTGGGKSL1Caenorhabditis elegans
G117VMPTGGGKSLC3Homo sapiens, Rattus norvegicus, Mus musculus
G117IMAAGGGKSLC1Arabidopsis thaliana
G117ILSTGGGKSLC1Caenorhabditis elegans
G118MPTGGGKSLCY3Homo sapiens, Rattus norvegicus, Mus musculus
G118MAAGGGKSLCY1Arabidopsis thaliana
G118LSTGGGKSLCY1Caenorhabditis elegans
H345HAGAYHANLEP1Homo sapiens
H345SADYYHADMDA1Arabidopsis thaliana
H345KAKHYHAYMEP1Caenorhabditis elegans
H345RAGTYHANMEP1Rattus norvegicus
H345HAGTYHANMEP1Mus musculus
I567TAYATISYLKV2Rattus norvegicus, Mus musculus
I567TAYATISYLKI1Homo sapiens
I567TPYSTNAYVTM1Arabidopsis thaliana
I567TVYSVISYVVI1Caenorhabditis elegans
K119PTGGGKSLCYQ3Homo sapiens, Rattus norvegicus, Mus musculus
K119AAGGGKSLCYQ1Arabidopsis thaliana
K119STGGGKSLCYQ1Caenorhabditis elegans
K206MSRLEKAYEAG2Rattus norvegicus, Mus musculus
K206MSRLEKAYEAR1Homo sapiens
K206MSKLEKCHNAG1Arabidopsis thaliana
K206MNKLEKSLSVG1Caenorhabditis elegans
K325YCFSQKDSEQV2Homo sapiens, Rattus norvegicus
K325YCFSRKECEQI1Arabidopsis thaliana
K325YCLSRNDCEKV1Caenorhabditis elegans
K325YCFSQKDSEQI1Mus musculus
K393HHSMSKSMENY3Homo sapiens, Rattus norvegicus, Mus musculus
K393HHSLSKSMETY1Arabidopsis thaliana
K393HHSLPKSIENY1Caenorhabditis elegans
K514KLTPLKLIDAW2Rattus norvegicus, Mus musculus
K514KLTPLKLIDSW1Homo sapiens
K514RVTMLQLGDKL1Arabidopsis thaliana
K514RITGNKLVELL1Caenorhabditis elegans
K91VFKLQKFRPLQ2Rattus norvegicus, Mus musculus
K91VFKLEKFRPLQ1Homo sapiens
K91VFGISKYRANQ1Arabidopsis thaliana
K91QFHLEKFRPLQ1Caenorhabditis elegans
L140LVICPLISLME3Homo sapiens, Rattus norvegicus, Mus musculus
L140LVVSPLLSLIQ1Arabidopsis thaliana
L140LVVSPLISLVE1Caenorhabditis elegans
L513EKLTPLKLIDA2Rattus norvegicus, Mus musculus
L513EKLTPLKLIDS1Homo sapiens
L513QRVTMLQLGDK1Arabidopsis thaliana
L513GRITGNKLVEL1Caenorhabditis elegans
L89QNVFKLEKFRP1Homo sapiens
L89FNVFGISKYRA1Arabidopsis thaliana
L89KEQFHLEKFRP1Caenorhabditis elegans
L89RDVFKLQKFRP1Rattus norvegicus
L89QNVFKLQKFRP1Mus musculus
M199IAKSKMFMSRL3Homo sapiens, Rattus norvegicus, Mus musculus
M199VSKSKRFMSKL1Arabidopsis thaliana
M199LAKSKKMMNKL1Caenorhabditis elegans
M429FRISSMVVMEN3Homo sapiens, Rattus norvegicus, Mus musculus
M429PRQSSMVFYEY1Arabidopsis thaliana
M429FKQSSMVQQER1Caenorhabditis elegans
Q324IYCFSQKDSEQ3Homo sapiens, Rattus norvegicus, Mus musculus
Q324VYCFSRKECEQ1Arabidopsis thaliana
Q324IYCLSRNDCEK1Caenorhabditis elegans
Q96KFRPLQLETIN2Homo sapiens, Mus musculus
Q96KYRANQKEIIN1Arabidopsis thaliana
Q96KFRPLQRAAIN1Caenorhabditis elegans
Q96KFRPLQLETVN1Rattus norvegicus
R232WGHDFRPDYKA3Homo sapiens, Rattus norvegicus, Mus musculus
R232WGHDFRPDYKN1Arabidopsis thaliana
R232WGHDFRTDYSF1Caenorhabditis elegans
R528GAAKLRVAGVV2Homo sapiens, Mus musculus
R528HKD-------L1Arabidopsis thaliana
R528----------L1Caenorhabditis elegans
R528GAAKFRVAGVA1Rattus norvegicus
R93KLQKFRPLQLE2Rattus norvegicus, Mus musculus
R93KLEKFRPLQLE1Homo sapiens
R93GISKYRANQKE1Arabidopsis thaliana
R93HLEKFRPLQRA1Caenorhabditis elegans
S120TGGGKSLCYQL4Homo sapiens, Caenorhabditis elegans, Rattus norvegicus, Mus musculus
S120AGGGKSLCYQL1Arabidopsis thaliana
S323IIYCFSQKDSE3Homo sapiens, Rattus norvegicus, Mus musculus
S323IVYCFSRKECE1Arabidopsis thaliana
S323IIYCLSRNDCE1Caenorhabditis elegans
T115FLVMPTGGGKS3Homo sapiens, Rattus norvegicus, Mus musculus
T115LVIMAAGGGKS1Arabidopsis thaliana
T115VVILSTGGGKS1Caenorhabditis elegans
T371QVVVATVAFGM3Homo sapiens, Rattus norvegicus, Mus musculus
T371QVIVGTVAFGM1Arabidopsis thaliana
T371QVIVATVAFGM1Caenorhabditis elegans
T511LNEKLTPLKLI3Homo sapiens, Rattus norvegicus, Mus musculus
T511KDQRVTMLQLG1Arabidopsis thaliana
T511GSGRITGNKLV1Caenorhabditis elegans
T566FTAYATISYLK3Homo sapiens, Rattus norvegicus, Mus musculus
T566HTPYSTNAYVT1Arabidopsis thaliana
T566YTVYSVISYVV1Caenorhabditis elegans
V372VVVATVAFGMG3Homo sapiens, Rattus norvegicus, Mus musculus
V372VIVGTVAFGMG1Arabidopsis thaliana
V372VIVATVAFGMG1Caenorhabditis elegans
V430RISSMVVMENV3Homo sapiens, Rattus norvegicus, Mus musculus
V430RQSSMVFYEYS1Arabidopsis thaliana
V430KQSSMVQQERT1Caenorhabditis elegans
Y564YSFTAYATISY3Homo sapiens, Rattus norvegicus, Mus musculus
Y564FQHTPYSTNAY1Arabidopsis thaliana
Y564FHYTVYSVISY1Caenorhabditis elegans
Y569YATISYLKVGP2Rattus norvegicus, Mus musculus
Y569YATISYLKIGP1Homo sapiens
Y569YSTNAYVTMGP1Arabidopsis thaliana
Y569YSVISYVVIGS1Caenorhabditis elegans


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